ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.3866T>C

dbSNP: rs200479541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000853712 SCV000996743 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3866T>C (YP_003024026.1:p.Ile187Thr) variant in MTND1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4
Breakthrough Genomics, Breakthrough Genomics RCV004714122 SCV005277484 benign not provided criteria provided, single submitter not provided

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